European Journal of Pediatrics

, Volume 171, Issue 3, pp 521–529

Description of children with 45,X/46,XY karyotype

Original Paper

DOI: 10.1007/s00431-011-1600-9

Cite this article as:
Tosson, H., Rose, S.R. & Gartner, L.A. Eur J Pediatr (2012) 171: 521. doi:10.1007/s00431-011-1600-9


We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.


Karyotype Testosterone Cardiac anomalies Renal anomalies Learning disability 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Hanan Tosson
    • 1
  • Susan R. Rose
    • 2
  • Lou Ann Gartner
    • 3
  1. 1.Pediatric Endocrinology ClinicMorgantownUSA
  2. 2.Division of Pediatric Endocrinology, Department of PediatricsCincinnati Children’s Hospital Medical Center and University of CincinnatiCincinnatiUSA
  3. 3.Division of Pediatric Endocrinology, Department of PediatricsWomen’s and Children’s Hospital of Buffalo and State University of New York at BuffaloBuffaloUSA

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